Last Updated: 09/26/2026
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Found 10 publications
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
Journal: Human molecular genetics
Published: November 07, 2025
Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing.
Journal: Pediatric dermatology
Published: September 29, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Journal: Genome medicine
Published: September 04, 2020
A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.
Journal: Human genome variation
Published: July 11, 2020
Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14.
Journal: American journal of medical genetics. Part A
Published: July 07, 2020
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
Journal: Journal of medical genetics
Published: March 01, 2017
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
Journal: Journal of medical genetics
Published: August 11, 2016
Chromosomal microarray in prenatal diagnosis: case studies and clinical challenges.
Journal: Personalized medicine
Published: May 01, 2016
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
Journal: European journal of medical genetics
Published: April 15, 2016
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Journal: Annals of neurology
Published: January 12, 2016
Showing 1-10 of 10
Last Updated: 09/26/2026